Varaico: Literature-Extracted Genetic Variants

Gene:PSD
Variant:p.R7C

PSD

308 papers

RefSeq Summary

This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-r...

Pfam Domains

Sec7aa 542–708UCSCSec7 domain
PHaa 757–869UCSCPH domain

Gene Aliases

HGNC Name

pleckstrin and Sec7 domain containing

HGNC Alias Symbols

KIAA2011; TYL; PSD1; EFA6A; EFA6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002779.5
p.R7C
c.19C>T
Surrounding Variants
1 paper
NM_002779.5
p.M1_M6del0
c.1_18del18
1 paper
NM_002779.5
p.E11G
c.32A>G
1 paper
NM_002779.5
p.E11insFs
c.32dupA
2 papers
NM_002779.5
p.G12V
c.35G>T
1 paper
NM_002779.5
p.G12A
c.35G>C
1 paper
NM_002779.5
p.G12D
c.35G>A
1 paper
NM_002779.5
p.A15V
c.44C>T
1 paper
NM_002779.5
p.S17delFs
c.50delG
2 papers
NM_002779.5
p.C21S
c.61T>A
1 paper
NM_002779.5
p.C21S
c.62G>C
1 paper
NM_002779.5
p.V31E
c.92T>A
2 papers
NM_002779.5
p.P32R
c.95C>G
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